Canonical Allele Identifier: CA1017041413

Gene: SNTA1

Linked Data

• dbSNP Id: rs1990498227
• gnomAD v3: 20-33438544-CCT-C
• gnomAD v4: 20-33438544-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438545_33438546del , CM000682.2:g.33438545_33438546del	GRCh38
NC_000020.10:g.32026351_32026352del , CM000682.1:g.32026351_32026352del	GRCh37
NC_000020.9:g.31490012_31490013del	NCBI36
NG_011622.1:g.10347_10348del , LRG_332:g.10347_10348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.496+295_496+296del MANE Select	ENSP00000217381.2:n.496+295_496+296del
ENST00000217381.2:c.496+295_496+296del	ENSP00000217381.2:n.496+295_496+296del
NM_003098.2:c.496+295_496+296del , LRG_332t1:c.496+295_496+296del	NP_003089.1:n.496+295_496+296del
XM_005260517.1:c.496+295_496+296del	XP_005260574.1:n.496+295_496+296del
XM_011529007.1:c.496+295_496+296del	XP_011527309.1:n.496+295_496+296del
XM_011529008.1:c.496+295_496+296del	XP_011527310.1:n.496+295_496+296del
XR_936612.1:n.729+295_729+296del
XM_024451971.1:c.169+295_169+296del	XP_024307739.1:n.169+295_169+296del
NM_003098.3:c.496+295_496+296del MANE Select	NP_003089.1:n.496+295_496+296del