Canonical Allele Identifier: CA2527366576

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647918_12647919del , CM000681.2:g.12647918_12647919del	GRCh38
NC_000019.9:g.12758732_12758733del , CM000681.1:g.12758732_12758733del	GRCh37
NC_000019.8:g.12619732_12619733del	NCBI36
NG_008318.1:g.23859_23860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+256_2664+257del MANE Select	ENSP00000395473.2:n.2664+256_2664+257del
ENST00000221363.8:c.2661+256_2661+257del	ENSP00000221363.4:n.2661+256_2661+257del
ENST00000456935.6:c.2664+256_2664+257del	ENSP00000395473.2:n.2664+256_2664+257del
ENST00000466794.5:n.3254+256_3254+257del
ENST00000597692.1:c.223+256_223+257del
NM_000528.3:c.2664+256_2664+257del	NP_000519.2:n.2664+256_2664+257del
NM_001173498.1:c.2661+256_2661+257del	NP_001166969.1:n.2661+256_2661+257del
XM_005259913.1:c.2667+256_2667+257del	XP_005259970.1:n.2667+256_2667+257del
XM_011528017.1:c.1563+256_1563+257del	XP_011526319.1:n.1563+256_1563+257del
XM_005259913.2:c.2667+256_2667+257del	XP_005259970.1:n.2667+256_2667+257del
XM_024451518.1:c.1563+256_1563+257del	XP_024307286.1:n.1563+256_1563+257del
NM_000528.4:c.2664+256_2664+257del MANE Select	NP_000519.2:n.2664+256_2664+257del
NM_001173498.2:c.2661+256_2661+257del	NP_001166969.1:n.2661+256_2661+257del