Canonical Allele Identifier: CA167218256

Gene: MKLN1

Linked Data

• dbSNP Id: rs146483331
• gnomAD v2: 7-131103558-G-GGT
• gnomAD v3: 7-131418799-G-GGT
• gnomAD v4: 7-131418799-G-GGT
• MyVariant Identifiers: chr7:g.131103558_131103559insGT (hg19) ; chr7:g.131418799_131418800insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131418800_131418801dup , CM000669.2:g.131418800_131418801dup	GRCh38
NC_000007.13:g.131103559_131103560dup , CM000669.1:g.131103559_131103560dup	GRCh37
NC_000007.12:g.130754099_130754100dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352689.11:c.847+4090_847+4091dup MANE Select	ENSP00000323527.6:n.847+4090_847+4091dup
ENST00000352689.10:c.847+4090_847+4091dup	ENSP00000323527.6:n.847+4090_847+4091dup
ENST00000421797.6:c.571+4090_571+4091dup	ENSP00000398094.2:n.571+4090_571+4091dup
ENST00000458153.5:c.*337+4090_*337+4091dup	ENSP00000407705.1:n.*337+4090_*337+4091dup
ENST00000494785.5:n.864+4090_864+4091dup
NM_001145354.1:c.778+4090_778+4091dup	NP_001138826.1:n.778+4090_778+4091dup
NM_013255.4:c.847+4090_847+4091dup	NP_037387.2:n.847+4090_847+4091dup
XM_005250356.1:c.226+4090_226+4091dup	XP_005250413.1:n.226+4090_226+4091dup
XM_006715993.1:c.847+4090_847+4091dup	XP_006716056.1:n.847+4090_847+4091dup
XM_011516224.1:c.847+4090_847+4091dup	XP_011514526.1:n.847+4090_847+4091dup
NM_001321316.1:c.226+4090_226+4091dup	NP_001308245.1:n.226+4090_226+4091dup
XM_006715993.3:c.847+4090_847+4091dup	XP_006716056.1:n.847+4090_847+4091dup
XM_011516224.3:c.847+4090_847+4091dup	XP_011514526.1:n.847+4090_847+4091dup
XM_024446766.1:c.571+4090_571+4091dup	XP_024302534.1:n.571+4090_571+4091dup
XM_024446767.1:c.571+4090_571+4091dup	XP_024302535.1:n.571+4090_571+4091dup
NM_013255.5:c.847+4090_847+4091dup MANE Select	NP_037387.2:n.847+4090_847+4091dup
NM_001145354.2:c.778+4090_778+4091dup	NP_001138826.1:n.778+4090_778+4091dup
NM_001321316.2:c.226+4090_226+4091dup	NP_001308245.1:n.226+4090_226+4091dup