Canonical Allele Identifier: CA2797414400

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595234_109595235insA , CM000674.2:g.109595234_109595235insA	GRCh38
NC_000012.11:g.110033039_110033040insA , CM000674.1:g.110033039_110033040insA	GRCh37
NC_000012.10:g.108517422_108517423insA	NCBI36
NG_007702.1:g.26540_26541insA , LRG_156:g.26540_26541insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.196+53_196+54insA	ENSP00000439134.1:n.196+53_196+54insA
ENST00000546277.6:c.1039+53_1039+54insA	ENSP00000438153.2:n.1039+53_1039+54insA
ENST00000636529.2:n.678+53_678+54insA
ENST00000697195.1:c.*803+53_*803+54insA	ENSP00000513181.1:n.*803+53_*803+54insA
ENST00000697196.1:c.*212+53_*212+54insA	ENSP00000513182.1:n.*212+53_*212+54insA
ENST00000697197.1:n.3068+53_3068+54insA
ENST00000697198.1:n.1423+53_1423+54insA
ENST00000228510.8:c.1039+53_1039+54insA MANE Select	ENSP00000228510.3:n.1039+53_1039+54insA
ENST00000636529.1:c.664+53_664+54insA
ENST00000636996.1:c.887+53_887+54insA
ENST00000228510.7:c.1039+53_1039+54insA	ENSP00000228510.3:n.1039+53_1039+54insA
ENST00000392727.7:c.883+53_883+54insA	ENSP00000376487.3:n.883+53_883+54insA
ENST00000447878.6:c.*486+53_*486+54insA	ENSP00000415555.2:n.*486+53_*486+54insA
ENST00000537237.5:c.*712+53_*712+54insA	ENSP00000445382.1:n.*712+53_*712+54insA
ENST00000539575.4:c.1039+53_1039+54insA	ENSP00000443551.2:n.1039+53_1039+54insA
ENST00000539696.5:c.196+53_196+54insA	ENSP00000439134.1:n.196+53_196+54insA
ENST00000540353.1:n.3272+53_3272+54insA
ENST00000625889.2:c.883+53_883+54insA	ENSP00000486846.1:n.883+53_883+54insA
ENST00000629016.2:c.*486+53_*486+54insA	ENSP00000486804.1:n.*486+53_*486+54insA
NM_000431.3:c.1039+53_1039+54insA	NP_000422.1:n.1039+53_1039+54insA
NM_001114185.2:c.1039+53_1039+54insA	NP_001107657.1:n.1039+53_1039+54insA
NM_001301182.1:c.883+53_883+54insA	NP_001288111.1:n.883+53_883+54insA
XM_011538372.1:c.1039+53_1039+54insA	XP_011536674.1:n.1039+53_1039+54insA
XM_017019313.2:c.883+53_883+54insA	XP_016874802.1:n.883+53_883+54insA
XM_017019314.1:c.1039+53_1039+54insA	XP_016874803.1:n.1039+53_1039+54insA
NM_000431.4:c.1039+53_1039+54insA MANE Select	NP_000422.1:n.1039+53_1039+54insA
NM_001114185.3:c.1039+53_1039+54insA	NP_001107657.1:n.1039+53_1039+54insA
NM_001301182.2:c.883+53_883+54insA	NP_001288111.1:n.883+53_883+54insA