Canonical Allele Identifier: CA2749455

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187251655_187251656del , CM000665.2:g.187251655_187251656del	GRCh38
NC_000003.11:g.186969443_186969444del , CM000665.1:g.186969443_186969444del	GRCh37
NC_000003.10:g.188452137_188452138del	NCBI36
NG_029440.1:g.45370_45371del , LRG_349:g.45370_45371del

Transcript Alleles

HGVS	Amino-acid Change
NM_139125.4:c.992_993del MANE Select	NP_624302.1:p.Thr331ArgfsTer8
ENST00000296280.11:c.992_993del MANE Select	ENSP00000296280.7:p.Thr331ArgfsTer8
NM_001879.6:c.992_993del MANE Plus Clinical	NP_001870.3:p.Thr331ArgfsTer8
ENST00000337774.10:c.992_993del MANE Plus Clinical	ENSP00000336792.5:p.Thr331ArgfsTer8
NM_001031849.2:c.992_993del , LRG_349t1:c.992_993del	NP_001027019.1:p.Thr331ArgfsTer8
NM_001031849.3:c.992_993del	NP_001027019.1:p.Thr331ArgfsTer8
NM_001879.5:c.992_993del , LRG_349t2:c.992_993del	NP_001870.3:p.Thr331ArgfsTer8
NM_139125.3:c.992_993del , LRG_349t3:c.992_993del	NP_624302.1:p.Thr331ArgfsTer8
NR_033519.1:n.1150_1151del
NR_033519.2:n.865_866del
ENST00000169293.10:c.992_993del	ENSP00000169293.6:p.Thr331ArgfsTer8
ENST00000296280.10:c.992_993del	ENSP00000296280.6:p.Thr331ArgfsTer8
ENST00000337774.9:c.992_993del	ENSP00000336792.5:p.Thr331ArgfsTer8
ENST00000392470.6:c.914_915del	ENSP00000376262.2:p.Thr305ArgfsTer8
ENST00000392472.6:c.653_654del	ENSP00000376264.2:p.Thr218ArgfsTer8
ENST00000483719.1:n.134_135del
ENST00000495249.1:n.67-15266_67-15265del
XM_006713700.2:c.914_915del	XP_006713763.1:p.Thr305ArgfsTer8
XM_006713701.1:c.914_915del	XP_006713764.1:p.Thr305ArgfsTer8
XM_006713701.2:c.914_915del	XP_006713764.1:p.Thr305ArgfsTer8
XM_011512989.1:c.1013_1014del	XP_011511291.1:p.Thr338ArgfsTer8
XM_011512989.2:c.1013_1014del	XP_011511291.1:p.Thr338ArgfsTer8
XM_011512990.1:c.1013_1014del	XP_011511292.1:p.Thr338ArgfsTer8
XM_011512990.2:c.1013_1014del	XP_011511292.1:p.Thr338ArgfsTer8
XM_011512991.1:c.1013_1014del	XP_011511293.1:p.Thr338ArgfsTer8
XM_011512991.2:c.1013_1014del	XP_011511293.1:p.Thr338ArgfsTer8
XM_017006869.1:c.914_915del	XP_016862358.1:p.Thr305ArgfsTer8
XM_017006870.2:c.899_900del	XP_016862359.1:p.Thr300ArgfsTer8
XM_017006871.1:c.1013_1014del	XP_016862360.1:p.Thr338ArgfsTer8
XM_017006872.1:c.653_654del	XP_016862361.1:p.Thr218ArgfsTer8