Canonical Allele Identifier: CA1922577325

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273929_80273944delinsGCAGGGTTTCTTTCTC , CM000672.2:g.80273929_80273944delinsGCAGGGTTTCTTTCTC	GRCh38
NC_000010.10:g.82033685_82033700delinsGCAGGGTTTCTTTCTC , CM000672.1:g.82033685_82033700delinsGCAGGGTTTCTTTCTC	GRCh37
NC_000010.9:g.82023665_82023680delinsGCAGGGTTTCTTTCTC	NCBI36
NG_008083.1:g.20735_20750delinsGAGAAAGAAACCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1086-61_1086-46delinsGAGAAAGAAACCCTGC MANE Select	ENSP00000361287.3:n.1086-61_1086-46delinsGAGAAAGAAACCCTGC
ENST00000372213.7:c.1086-61_1086-46delinsGAGAAAGAAACCCTGC	ENSP00000361287.3:n.1086-61_1086-46delinsGAGAAAGAAACCCTGC
ENST00000480845.1:n.318-61_318-46delinsGAGAAAGAAACCCTGC
ENST00000485270.5:n.598-61_598-46delinsGAGAAAGAAACCCTGC
NM_000429.2:c.1086-61_1086-46delinsGAGAAAGAAACCCTGC	NP_000420.1:n.1086-61_1086-46delinsGAGAAAGAAACCCTGC
XM_005269842.3:c.1086-61_1086-46delinsGAGAAAGAAACCCTGC	XP_005269899.1:n.1086-61_1086-46delinsGAGAAAGAAACCCTGC
XM_005269843.3:c.963-61_963-46delinsGAGAAAGAAACCCTGC	XP_005269900.1:n.963-61_963-46delinsGAGAAAGAAACCCTGC
NM_000429.3:c.1086-61_1086-46delinsGAGAAAGAAACCCTGC MANE Select	NP_000420.1:n.1086-61_1086-46delinsGAGAAAGAAACCCTGC