Canonical Allele Identifier: CA2538858906

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280313_80280314insCCTTGGTCTCCTGC , CM000672.2:g.80280313_80280314insCCTTGGTCTCCTGC	GRCh38
NC_000010.10:g.82040069_82040070insCCTTGGTCTCCTGC , CM000672.1:g.82040069_82040070insCCTTGGTCTCCTGC	GRCh37
NC_000010.9:g.82030049_82030050insCCTTGGTCTCCTGC	NCBI36
NG_008083.1:g.14365_14366insGCAGGAGACCAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.408_409insGCAGGAGACCAAGG MANE Select	ENSP00000361287.3:p.Leu137AlafsTer6
ENST00000372213.7:c.408_409insGCAGGAGACCAAGG	ENSP00000361287.3:p.Leu137AlafsTer6
ENST00000455001.1:c.219_220insGCAGGAGACCAAGG	ENSP00000414961.1:p.Leu74AlafsTer6
NM_000429.2:c.408_409insGCAGGAGACCAAGG	NP_000420.1:p.Leu137AlafsTer6
XM_005269842.3:c.408_409insGCAGGAGACCAAGG	XP_005269899.1:p.Leu137AlafsTer6
XM_005269843.3:c.285_286insGCAGGAGACCAAGG	XP_005269900.1:p.Leu96AlafsTer6
NM_000429.3:c.408_409insGCAGGAGACCAAGG MANE Select	NP_000420.1:p.Leu137AlafsTer6