Canonical Allele Identifier: CA2620818756

Gene: MVK

Linked Data

• gnomAD v4: 12-109595281-C-CTCTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595283_109595284insTTTTTC , CM000674.2:g.109595283_109595284insTTTTTC	GRCh38
NC_000012.11:g.110033088_110033089insTTTTTC , CM000674.1:g.110033088_110033089insTTTTTC	GRCh37
NC_000012.10:g.108517471_108517472insTTTTTC	NCBI36
NG_007702.1:g.26589_26590insTTTTTC , LRG_156:g.26589_26590insTTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.196+102_196+103insTTTTTC	ENSP00000439134.1:n.196+102_196+103insTTTTTC
ENST00000546277.6:c.1039+102_1039+103insTTTTTC	ENSP00000438153.2:n.1039+102_1039+103insTTTTTC
ENST00000636529.2:n.678+102_678+103insTTTTTC
ENST00000697195.1:c.*803+102_*803+103insTTTTTC	ENSP00000513181.1:n.*803+102_*803+103insTTTTTC
ENST00000697196.1:c.*212+102_*212+103insTTTTTC	ENSP00000513182.1:n.*212+102_*212+103insTTTTTC
ENST00000697197.1:n.3068+102_3068+103insTTTTTC
ENST00000697198.1:n.1423+102_1423+103insTTTTTC
ENST00000228510.8:c.1039+102_1039+103insTTTTTC MANE Select	ENSP00000228510.3:n.1039+102_1039+103insTTTTTC
ENST00000636529.1:c.664+102_664+103insTTTTTC
ENST00000636996.1:c.887+102_887+103insTTTTTC
ENST00000228510.7:c.1039+102_1039+103insTTTTTC	ENSP00000228510.3:n.1039+102_1039+103insTTTTTC
ENST00000392727.7:c.883+102_883+103insTTTTTC	ENSP00000376487.3:n.883+102_883+103insTTTTTC
ENST00000447878.6:c.*486+102_*486+103insTTTTTC	ENSP00000415555.2:n.*486+102_*486+103insTTTTTC
ENST00000537237.5:c.*712+102_*712+103insTTTTTC	ENSP00000445382.1:n.*712+102_*712+103insTTTTTC
ENST00000539575.4:c.1039+102_1039+103insTTTTTC	ENSP00000443551.2:n.1039+102_1039+103insTTTTTC
ENST00000539696.5:c.196+102_196+103insTTTTTC	ENSP00000439134.1:n.196+102_196+103insTTTTTC
ENST00000540353.1:n.3272+102_3272+103insTTTTTC
ENST00000625889.2:c.883+102_883+103insTTTTTC	ENSP00000486846.1:n.883+102_883+103insTTTTTC
ENST00000629016.2:c.*486+102_*486+103insTTTTTC	ENSP00000486804.1:n.*486+102_*486+103insTTTTTC
NM_000431.3:c.1039+102_1039+103insTTTTTC	NP_000422.1:n.1039+102_1039+103insTTTTTC
NM_001114185.2:c.1039+102_1039+103insTTTTTC	NP_001107657.1:n.1039+102_1039+103insTTTTTC
NM_001301182.1:c.883+102_883+103insTTTTTC	NP_001288111.1:n.883+102_883+103insTTTTTC
XM_011538372.1:c.1039+102_1039+103insTTTTTC	XP_011536674.1:n.1039+102_1039+103insTTTTTC
XM_017019313.2:c.883+102_883+103insTTTTTC	XP_016874802.1:n.883+102_883+103insTTTTTC
XM_017019314.1:c.1039+102_1039+103insTTTTTC	XP_016874803.1:n.1039+102_1039+103insTTTTTC
NM_000431.4:c.1039+102_1039+103insTTTTTC MANE Select	NP_000422.1:n.1039+102_1039+103insTTTTTC
NM_001114185.3:c.1039+102_1039+103insTTTTTC	NP_001107657.1:n.1039+102_1039+103insTTTTTC
NM_001301182.2:c.883+102_883+103insTTTTTC	NP_001288111.1:n.883+102_883+103insTTTTTC