Canonical Allele Identifier: CA635719715

Gene: SNTA1

Linked Data

• dbSNP Id: rs1317792139
• gnomAD v2: 20-32000042-CCTGCTGGAGCAT-C
• gnomAD v3: 20-33412236-CCTGCTGGAGCAT-C
• gnomAD v4: 20-33412236-CCTGCTGGAGCAT-C
• MyVariant Identifiers: chr20:g.32000043_32000054del (hg19) ; chr20:g.33412237_33412248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33412239_33412250del , CM000682.2:g.33412239_33412250del	GRCh38
NC_000020.10:g.32000045_32000056del , CM000682.1:g.32000045_32000056del	GRCh37
NC_000020.9:g.31463706_31463717del	NCBI36
NG_011622.1:g.36645_36656del , LRG_332:g.36645_36656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1040+48_1040+59del MANE Select	ENSP00000217381.2:n.1040+48_1040+59del
ENST00000217381.2:c.1040+48_1040+59del	ENSP00000217381.2:n.1040+48_1040+59del
NM_003098.2:c.1040+48_1040+59del , LRG_332t1:c.1040+48_1040+59del	NP_003089.1:n.1040+48_1040+59del
XM_005260517.1:c.1040+48_1040+59del	XP_005260574.1:n.1040+48_1040+59del
XM_011529007.1:c.1040+48_1040+59del	XP_011527309.1:n.1040+48_1040+59del
XM_011529008.1:c.1040+48_1040+59del	XP_011527310.1:n.1040+48_1040+59del
XR_936612.1:n.1273+48_1273+59del
XM_024451971.1:c.713+48_713+59del	XP_024307739.1:n.713+48_713+59del
NM_003098.3:c.1040+48_1040+59del MANE Select	NP_003089.1:n.1040+48_1040+59del