Canonical Allele Identifier: CA796432614

Gene: NMU

Linked Data

• dbSNP Id: rs1285768856
• gnomAD v3: 4-55601237-T-TATG
• gnomAD v4: 4-55601237-T-TATG
• MyVariant Identifiers: chr4:g.56467404_56467405insATG (hg19) ; chr4:g.55601237_55601238insATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55601238_55601240dup , CM000666.2:g.55601238_55601240dup	GRCh38
NC_000004.11:g.56467405_56467407dup , CM000666.1:g.56467405_56467407dup	GRCh37
NC_000004.10:g.56162162_56162164dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264218.7:c.436-665_436-663dup MANE Select	ENSP00000264218.3:n.436-665_436-663dup
ENST00000505262.5:c.355-665_355-663dup	ENSP00000424246.1:n.355-665_355-663dup
ENST00000507338.1:c.361-665_361-663dup	ENSP00000422870.1:n.361-665_361-663dup
ENST00000509371.1:n.200-665_200-663dup
ENST00000511469.5:c.388-665_388-663dup	ENSP00000422399.1:n.388-665_388-663dup
ENST00000515325.5:n.428-665_428-663dup
NM_001292045.1:c.388-665_388-663dup	NP_001278974.1:n.388-665_388-663dup
NM_001292046.1:c.361-665_361-663dup	NP_001278975.1:n.361-665_361-663dup
NM_006681.3:c.436-665_436-663dup	NP_006672.1:n.436-665_436-663dup
NR_120489.1:n.428-665_428-663dup
XM_011534367.1:c.385-665_385-663dup	XP_011532669.1:n.385-665_385-663dup
XM_011534368.1:c.334-665_334-663dup	XP_011532670.1:n.334-665_334-663dup
XM_011534367.2:c.385-665_385-663dup	XP_011532669.1:n.385-665_385-663dup
XM_011534368.3:c.334-665_334-663dup	XP_011532670.1:n.334-665_334-663dup
NM_006681.4:c.436-665_436-663dup MANE Select	NP_006672.1:n.436-665_436-663dup
NM_001292045.2:c.388-665_388-663dup	NP_001278974.1:n.388-665_388-663dup
NM_001292046.2:c.361-665_361-663dup	NP_001278975.1:n.361-665_361-663dup
NR_120489.2:n.523-665_523-663dup