Canonical Allele Identifier: CA2679046366

Gene: MMUT

Linked Data

• gnomAD v4: 6-49447637-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49447637_49447638insAAA , CM000668.2:g.49447637_49447638insAAA	GRCh38
NC_000006.11:g.49415350_49415351insAAA , CM000668.1:g.49415350_49415351insAAA	GRCh37
NC_000006.10:g.49523309_49523310insAAA	NCBI36
NG_007100.1:g.20502_20503insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1560+32_1560+33insTTT MANE Select	ENSP00000274813.3:n.1560+32_1560+33insTTT
ENST00000274813.3:c.1560+32_1560+33insTTT	ENSP00000274813.3:n.1560+32_1560+33insTTT
NM_000255.3:c.1560+32_1560+33insTTT	NP_000246.2:n.1560+32_1560+33insTTT
XM_005249143.2:c.1560+32_1560+33insTTT	XP_005249200.1:n.1560+32_1560+33insTTT
XM_005249143.3:c.1560+32_1560+33insTTT	XP_005249200.1:n.1560+32_1560+33insTTT
NM_000255.4:c.1560+32_1560+33insTTT MANE Select	NP_000246.2:n.1560+32_1560+33insTTT