Canonical Allele Identifier: CA1024911735

Gene: GAS2L1

Linked Data

• dbSNP Id: rs2061423094
• gnomAD v3: 22-29312592-TACCAGACCTCATGGG-T
• gnomAD v4: 22-29312592-TACCAGACCTCATGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29312601_29312615del , CM000684.2:g.29312601_29312615del	GRCh38
NC_000022.10:g.29708590_29708604del , CM000684.1:g.29708590_29708604del	GRCh37
NC_000022.9:g.28038590_28038604del	NCBI36
NG_032959.1:g.10595_10609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616432.5:c.*104_*118del MANE Select	ENSP00000478908.1:n.*104_*118del
ENST00000406549.7:c.*104_*118del	ENSP00000383995.3:n.*104_*118del
ENST00000611648.2:c.*104_*118del	ENSP00000479551.1:n.*104_*118del
ENST00000616432.4:c.*104_*118del	ENSP00000478908.1:n.*104_*118del
ENST00000618518.3:c.*104_*118del	ENSP00000481012.1:n.*104_*118del
ENST00000621062.4:c.*104_*118del	ENSP00000478343.1:n.*104_*118del
NM_001278730.1:c.*104_*118del	NP_001265659.1:n.*104_*118del
NM_006478.4:c.*104_*118del	NP_006469.2:n.*104_*118del
NM_152236.2:c.*104_*118del	NP_689422.1:n.*104_*118del
XM_011529824.1:c.*104_*118del	XP_011528126.1:n.*104_*118del
XM_011529825.1:c.*104_*118del	XP_011528127.1:n.*104_*118del
NM_001362985.1:c.*104_*118del	NP_001349914.1:n.*104_*118del
XM_017028533.1:c.*104_*118del	XP_016884022.1:n.*104_*118del
NM_001278730.2:c.*104_*118del	NP_001265659.1:n.*104_*118del
NM_001362985.2:c.*104_*118del	NP_001349914.1:n.*104_*118del
NM_006478.5:c.*104_*118del	NP_006469.2:n.*104_*118del
NM_152236.3:c.*104_*118del	NP_689422.1:n.*104_*118del
NM_001362985.3:c.*104_*118del MANE Select	NP_001349914.1:n.*104_*118del
NM_001395196.1:c.*104_*118del	NP_001382125.1:n.*104_*118del
NM_001395197.1:c.*104_*118del	NP_001382126.1:n.*104_*118del