Canonical Allele Identifier: CA2582717351

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647381-TTTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647388_12647392del , CM000681.2:g.12647388_12647392del	GRCh38
NC_000019.9:g.12758202_12758206del , CM000681.1:g.12758202_12758206del	GRCh37
NC_000019.8:g.12619202_12619206del	NCBI36
NG_008318.1:g.24392_24396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2821-51_2821-47del MANE Select	ENSP00000395473.2:n.2821-51_2821-47del
ENST00000221363.8:c.2818-51_2818-47del	ENSP00000221363.4:n.2818-51_2818-47del
ENST00000456935.6:c.2821-51_2821-47del	ENSP00000395473.2:n.2821-51_2821-47del
ENST00000466794.5:n.3411-51_3411-47del
ENST00000469423.1:n.199_203del
ENST00000493218.5:n.232-51_232-47del
ENST00000597692.1:c.380-51_380-47del
NM_000528.3:c.2821-51_2821-47del	NP_000519.2:n.2821-51_2821-47del
NM_001173498.1:c.2818-51_2818-47del	NP_001166969.1:n.2818-51_2818-47del
XM_005259913.1:c.2824-51_2824-47del	XP_005259970.1:n.2824-51_2824-47del
XM_011528017.1:c.1720-51_1720-47del	XP_011526319.1:n.1720-51_1720-47del
XM_005259913.2:c.2824-51_2824-47del	XP_005259970.1:n.2824-51_2824-47del
XM_024451518.1:c.1720-51_1720-47del	XP_024307286.1:n.1720-51_1720-47del
NM_000528.4:c.2821-51_2821-47del MANE Select	NP_000519.2:n.2821-51_2821-47del
NM_001173498.2:c.2818-51_2818-47del	NP_001166969.1:n.2818-51_2818-47del