Canonical Allele Identifier: CA287177471

Gene: MINK1

Linked Data

• dbSNP Id: rs965181031
• gnomAD v2: 17-4801023-T-TG
• gnomAD v3: 17-4897728-T-TG
• gnomAD v4: 17-4897728-T-TG
• MyVariant Identifiers: chr17:g.4801024_4801025insG (hg19) ; chr17:g.4801023_4801024insG (hg19) ; chr17:g.4897729_4897730insG (hg38) ; chr17:g.4897728_4897729insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4897734dup , CM000679.2:g.4897734dup	GRCh38
NC_000017.10:g.4801029dup , CM000679.1:g.4801029dup	GRCh37
NC_000017.9:g.4741805dup	NCBI36
NG_008029.2:g.10347dup
NG_028005.1:g.69395dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355280.11:c.*447dup MANE Select	ENSP00000347427.6:n.*447dup
ENST00000347992.11:c.*447dup	ENSP00000269296.7:n.*447dup
ENST00000355280.10:c.*447dup	ENSP00000347427.6:n.*447dup
ENST00000571207.5:c.4242dup
ENST00000572330.5:n.5228dup
ENST00000574453.5:c.*4115dup	ENSP00000461500.1:n.*4115dup
ENST00000574871.1:n.2824dup
NM_001024937.3:c.*447dup	NP_001020108.1:n.*447dup
NM_015716.4:c.*447dup	NP_056531.1:n.*447dup
NM_153827.4:c.*447dup	NP_722549.2:n.*447dup
NM_170663.4:c.*447dup	NP_733763.1:n.*447dup
XM_005256664.2:c.*447dup	XP_005256721.1:n.*447dup
XM_005256665.2:c.*447dup	XP_005256722.1:n.*447dup
XM_006721530.2:c.*447dup	XP_006721593.1:n.*447dup
XM_006721531.2:c.*447dup	XP_006721594.1:n.*447dup
XM_006721532.2:c.*447dup	XP_006721595.1:n.*447dup
XM_006721533.2:c.*447dup	XP_006721596.1:n.*447dup
XM_006721534.2:c.*447dup	XP_006721597.1:n.*447dup
XM_006721535.2:c.*447dup	XP_006721598.1:n.*447dup
XM_006721536.2:c.*447dup	XP_006721599.1:n.*447dup
XM_006721538.2:c.*447dup	XP_006721601.1:n.*447dup
XM_011523905.1:c.*447dup	XP_011522207.1:n.*447dup
XM_011523906.1:c.*447dup	XP_011522208.1:n.*447dup
XM_011523907.1:c.*447dup	XP_011522209.1:n.*447dup
XM_011523908.1:c.*447dup	XP_011522210.1:n.*447dup
NM_001321236.1:c.*447dup	NP_001308165.1:n.*447dup
XM_017024704.1:c.*447dup	XP_016880193.1:n.*447dup
XM_017024705.1:c.*447dup	XP_016880194.1:n.*447dup
XM_017024706.1:c.*447dup	XP_016880195.1:n.*447dup
XM_017024707.2:c.*447dup	XP_016880196.1:n.*447dup
XM_017024708.1:c.*447dup	XP_016880197.1:n.*447dup
XR_001752522.2:n.4791dup
NM_153827.5:c.*447dup MANE Select	NP_722549.2:n.*447dup
NM_001024937.4:c.*447dup	NP_001020108.1:n.*447dup
NM_001321236.2:c.*447dup	NP_001308165.1:n.*447dup
NM_015716.5:c.*447dup	NP_056531.1:n.*447dup
NM_170663.5:c.*447dup	NP_733763.1:n.*447dup