Canonical Allele Identifier: CA2580617072

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2506881
• ClinVar RCV Id: RCV003237250

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690128_107690130delinsCAGCAACATCTTCTCAGGATTCTTCTC , CM000669.2:g.107690128_107690130delinsCAGCAACATCTTCTCAGGATTCTTCTC	GRCh38
NC_000007.13:g.107330573_107330575delinsCAGCAACATCTTCTCAGGATTCTTCTC , CM000669.1:g.107330573_107330575delinsCAGCAACATCTTCTCAGGATTCTTCTC	GRCh37
NC_000007.12:g.107117809_107117811delinsCAGCAACATCTTCTCAGGATTCTTCTC	NCBI36
NG_008489.1:g.34494_34496delinsCAGCAACATCTTCTCAGGATTCTTCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC MANE Select	ENSP00000494017.1:p.Phe385_Ile386delinsSe...
ENST00000265715.7:c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC	ENSP00000265715.3:p.Phe385_Ile386delinsSe...
NM_000441.1:c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC	NP_000432.1:p.Phe385_Ile386delinsSerAlaTh...
XM_005250425.1:c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC	XP_005250482.1:p.Phe385_Ile386delinsSerAl...
XM_006716025.2:c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC	XP_006716088.1:p.Phe385_Ile386delinsSerAl...
XM_005250425.2:c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC	XP_005250482.1:p.Phe385_Ile386delinsSerAl...
XM_006716025.3:c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC	XP_006716088.1:p.Phe385_Ile386delinsSerAl...
XM_017012318.1:c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC	XP_016867807.1:p.Phe385_Ile386delinsSerAl...
NM_000441.2:c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC MANE Select	NP_000432.1:p.Phe385_Ile386delinsSerAlaTh...