Canonical Allele Identifier: CA551650074
Gene: GABRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2986886
ClinVar RCV Id: RCV003846541
dbSNP Id: rs1384767710
gnomAD v2: 4-47408956-A-ATATTCC
gnomAD v4: 4-47406939-A-ATATTCC
MyVariant Identifiers: chr4:g.47408956_47408957insTATTCC (hg19) chr4:g.47406939_47406940insTATTCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406942_47406947dup , CM000666.2:g.47406942_47406947dup GRCh38
NC_000004.11:g.47408959_47408964dup , CM000666.1:g.47408959_47408964dup GRCh37
NC_000004.10:g.47103716_47103721dup NCBI36
NG_051831.1:g.380665_380670dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+16_1080+21dup MANE Select ENSP00000295454.3:n.1080+16_1080+21dup
ENST00000295454.7:c.1080+16_1080+21dup ENSP00000295454.3:n.1080+16_1080+21dup
NM_000812.3:c.1080+16_1080+21dup NP_000803.2:n.1080+16_1080+21dup
XM_011513678.1:c.1059+16_1059+21dup XP_011511980.1:n.1059+16_1059+21dup
XM_017007985.1:c.429+16_429+21dup XP_016863474.1:n.429+16_429+21dup
XM_024453976.1:c.981+16_981+21dup XP_024309744.1:n.981+16_981+21dup
XM_024453977.1:c.981+16_981+21dup XP_024309745.1:n.981+16_981+21dup
XM_024453978.1:c.981+16_981+21dup XP_024309746.1:n.981+16_981+21dup
NM_000812.4:c.1080+16_1080+21dup MANE Select NP_000803.2:n.1080+16_1080+21dup
Search 100 bp 5'
Search 100 bp 3'