Canonical Allele Identifier: CA577198994

Gene: SLC26A3

Linked Data

• dbSNP Id: rs752451485
• gnomAD v2: 7-107408127-AT-A
• gnomAD v4: 7-107767682-AT-A
• COSMIC: COSN15649288
• MyVariant Identifiers: chr7:g.107408128del (hg19) ; chr7:g.107767683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107767690del , CM000669.2:g.107767690del	GRCh38
NC_000007.13:g.107408135del , CM000669.1:g.107408135del	GRCh37
NC_000007.12:g.107195371del	NCBI36
NG_008046.1:g.40551del , LRG_683:g.40551del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340010.10:c.2206-39del MANE Select	ENSP00000345873.5:n.2206-39del
ENST00000340010.9:c.2206-39del	ENSP00000345873.5:n.2206-39del
ENST00000379083.7:c.*1763-39del	ENSP00000368375.3:n.*1763-39del
NM_000111.2:c.2206-39del , LRG_683t1:c.2206-39del	NP_000102.1:n.2206-39del
XM_011515867.1:c.2206-39del	XP_011514169.1:n.2206-39del
NM_000111.3:c.2206-39del MANE Select	NP_000102.1:n.2206-39del