Canonical Allele Identifier: CA6779113

Gene: MVK MMAB

Linked Data

• dbSNP Id: rs745473679
• ExAC: 12:110011360 G / GC
• gnomAD v2: 12-110011360-G-GC
• gnomAD v3: 12-109573555-G-GC
• gnomAD v4: 12-109573555-G-GC
• MyVariant Identifiers: chr12:g.110011360_110011361insC (hg19) ; chr12:g.109573555_109573556insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573557dup , CM000674.2:g.109573557dup	GRCh38
NC_000012.11:g.110011362dup , CM000674.1:g.110011362dup	GRCh37
NC_000012.10:g.108495745dup	NCBI36
NG_007096.1:g.4942dup
NG_007702.1:g.4863dup , LRG_156:g.4863dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546277.6:c.-29dup (MVK)	ENSP00000438153.2:n.-29dup
ENST00000535044.1:n.217dup (MVK)
ENST00000537236.2:c.-76dup (MMAB)	ENSP00000483818.1:n.-76dup
ENST00000539335.5:c.-20dup (MVK)	ENSP00000440379.1:n.-20dup
ENST00000545712.6:c.-76dup (MMAB)	ENSP00000445920.1:n.-76dup
ENST00000546277.5:c.-29dup (MVK)	ENSP00000438153.1:n.-29dup
XM_011538372.1:c.-29dup (MVK)	XP_011536674.1:n.-29dup
XM_017019313.2:c.-29dup (MVK)	XP_016874802.1:n.-29dup
XM_024448961.1:c.-76dup (MMAB)	XP_024304729.1:n.-76dup
XM_024448982.1:c.-29dup (MVK)	XP_024304750.1:n.-29dup