Canonical Allele Identifier: CA4433066
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs774437716
ExAC: 7:107350590 C / CG
gnomAD v2: 7-107350590-C-CG
gnomAD v4: 7-107710145-C-CG
MyVariant Identifiers: chr7:g.107350590_107350591insG (hg19) chr7:g.107710145_107710146insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710145_107710146insG , CM000669.2:g.107710145_107710146insG GRCh38
NC_000007.13:g.107350590_107350591insG , CM000669.1:g.107350590_107350591insG GRCh37
NC_000007.12:g.107137826_107137827insG NCBI36
NG_008489.1:g.54511_54512insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2181_2182insG MANE Select ENSP00000494017.1:p.Tyr728ValfsTer26
ENST00000644846.1:c.837_838insG
ENST00000265715.7:c.2181_2182insG ENSP00000265715.3:p.Tyr728ValfsTer26
ENST00000492030.2:n.377-10_377-9insG
NM_000441.1:c.2181_2182insG NP_000432.1:p.Tyr728ValfsTer26
XM_005250425.1:c.2181_2182insG XP_005250482.1:p.Tyr728ValfsTer26
XM_005250425.2:c.2181_2182insG XP_005250482.1:p.Tyr728ValfsTer26
XM_017012318.1:c.2103_2104insG XP_016867807.1:p.Tyr702ValfsTer26
NM_000441.2:c.2181_2182insG MANE Select NP_000432.1:p.Tyr728ValfsTer26
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