Canonical Allele Identifier: CA2507548543

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280314_80280315insTGCCTTGGTCGCCGGCG , CM000672.2:g.80280314_80280315insTGCCTTGGTCGCCGGCG	GRCh38
NC_000010.10:g.82040070_82040071insTGCCTTGGTCGCCGGCG , CM000672.1:g.82040070_82040071insTGCCTTGGTCGCCGGCG	GRCh37
NC_000010.9:g.82030050_82030051insTGCCTTGGTCGCCGGCG	NCBI36
NG_008083.1:g.14364_14365insCGCCGGCGACCAAGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.407_408insCGCCGGCGACCAAGGCA MANE Select	ENSP00000361287.3:p.Leu137AlafsTer7
ENST00000372213.7:c.407_408insCGCCGGCGACCAAGGCA	ENSP00000361287.3:p.Leu137AlafsTer7
ENST00000455001.1:c.218_219insCGCCGGCGACCAAGGCA	ENSP00000414961.1:p.Leu74AlafsTer7
NM_000429.2:c.407_408insCGCCGGCGACCAAGGCA	NP_000420.1:p.Leu137AlafsTer7
XM_005269842.3:c.407_408insCGCCGGCGACCAAGGCA	XP_005269899.1:p.Leu137AlafsTer7
XM_005269843.3:c.284_285insCGCCGGCGACCAAGGCA	XP_005269900.1:p.Leu96AlafsTer7
NM_000429.3:c.407_408insCGCCGGCGACCAAGGCA MANE Select	NP_000420.1:p.Leu137AlafsTer7