Canonical Allele Identifier: CA2739277306

Gene: MVK MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573333del , CM000674.2:g.109573333del	GRCh38
NC_000012.11:g.110011138del , CM000674.1:g.110011138del	GRCh37
NC_000012.10:g.108495521del	NCBI36
NG_007096.1:g.5167del
NG_007702.1:g.4639del , LRG_156:g.4639del

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.134+16del (MMAB) MANE Select	NP_443077.1:n.134+16del
ENST00000545712.7:c.134+16del (MMAB) MANE Select	ENSP00000445920.1:n.134+16del
NM_052845.3:c.134+16del (MMAB)	NP_443077.1:n.134+16del
NR_038118.1:n.207+16del (MMAB)
NR_038118.2:n.158+16del (MMAB)
ENST00000420167.6:c.134+16del (MMAB)	ENSP00000416136.2:n.134+16del
ENST00000503497.7:c.134+16del (MMAB)	ENSP00000474881.1:n.134+16del
ENST00000536760.1:n.137+16del (MMAB)
ENST00000537236.2:c.134+16del (MMAB)	ENSP00000483818.1:n.134+16del
ENST00000537496.5:c.134+16del (MMAB)	ENSP00000444793.1:n.134+16del
ENST00000539335.5:c.-244del (MVK)	ENSP00000440379.1:n.-244del
ENST00000540016.5:c.134+16del (MMAB)	ENSP00000474582.1:n.134+16del
ENST00000541763.6:c.134+16del (MMAB)	ENSP00000474981.1:n.134+16del
ENST00000542390.5:n.161+16del (MMAB)
ENST00000544051.5:c.134+16del (MMAB)	ENSP00000438079.1:n.134+16del
ENST00000545712.6:c.134+16del (MMAB)	ENSP00000445920.1:n.134+16del
ENST00000546277.5:c.-253del (MVK)	ENSP00000438153.1:n.-253del
ENST00000546277.6:c.-253del (MVK)	ENSP00000438153.2:n.-253del
XM_024448961.1:c.134+16del (MMAB)	XP_024304729.1:n.134+16del