Canonical Allele Identifier: CA2323498621

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647401_12647402delinsCT , CM000681.2:g.12647401_12647402delinsCT	GRCh38
NC_000019.9:g.12758215_12758216delinsCT , CM000681.1:g.12758215_12758216delinsCT	GRCh37
NC_000019.8:g.12619215_12619216delinsCT	NCBI36
NG_008318.1:g.24376_24377delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2820+41_2820+42delinsAG MANE Select	ENSP00000395473.2:n.2820+41_2820+42delins...
ENST00000221363.8:c.2817+41_2817+42delinsAG	ENSP00000221363.4:n.2817+41_2817+42delins...
ENST00000456935.6:c.2820+41_2820+42delinsAG	ENSP00000395473.2:n.2820+41_2820+42delins...
ENST00000466794.5:n.3410+41_3410+42delinsAG
ENST00000469423.1:n.183_184delinsAG
ENST00000493218.5:n.231+41_231+42delinsAG
ENST00000597692.1:c.379+41_379+42delinsAG
NM_000528.3:c.2820+41_2820+42delinsAG	NP_000519.2:n.2820+41_2820+42delinsAG
NM_001173498.1:c.2817+41_2817+42delinsAG	NP_001166969.1:n.2817+41_2817+42delinsAG
XM_005259913.1:c.2823+41_2823+42delinsAG	XP_005259970.1:n.2823+41_2823+42delinsAG
XM_011528017.1:c.1719+41_1719+42delinsAG	XP_011526319.1:n.1719+41_1719+42delinsAG
XM_005259913.2:c.2823+41_2823+42delinsAG	XP_005259970.1:n.2823+41_2823+42delinsAG
XM_024451518.1:c.1719+41_1719+42delinsAG	XP_024307286.1:n.1719+41_1719+42delinsAG
NM_000528.4:c.2820+41_2820+42delinsAG MANE Select	NP_000519.2:n.2820+41_2820+42delinsAG
NM_001173498.2:c.2817+41_2817+42delinsAG	NP_001166969.1:n.2817+41_2817+42delinsAG