Canonical Allele Identifier: CA2582720996

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658325-AGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658329_12658331del , CM000681.2:g.12658329_12658331del	GRCh38
NC_000019.9:g.12769143_12769145del , CM000681.1:g.12769143_12769145del	GRCh37
NC_000019.8:g.12630143_12630145del	NCBI36
NG_008318.1:g.13450_13452del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1126_1128del MANE Select	ENSP00000395473.2:p.Asp376del
ENST00000221363.8:c.1123_1125del	ENSP00000221363.4:p.Asp375del
ENST00000456935.6:c.1126_1128del	ENSP00000395473.2:p.Asp376del
ENST00000465830.1:n.290_292del
ENST00000466794.5:n.1025_1027del
ENST00000495617.1:n.280+403_280+405del
NM_000528.3:c.1126_1128del	NP_000519.2:p.Asp376del
NM_001173498.1:c.1123_1125del	NP_001166969.1:p.Asp375del
XM_005259913.1:c.1129_1131del	XP_005259970.1:p.Asp377del
XM_011528017.1:c.25_27del	XP_011526319.1:p.Asp9del
XM_005259913.2:c.1129_1131del	XP_005259970.1:p.Asp377del
XM_024451518.1:c.25_27del	XP_024307286.1:p.Asp9del
NM_000528.4:c.1126_1128del MANE Select	NP_000519.2:p.Asp376del
NM_001173498.2:c.1123_1125del	NP_001166969.1:p.Asp375del