Canonical Allele Identifier: CA2616355581

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093296-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093299_119093300del , CM000673.2:g.119093299_119093300del	GRCh38
NC_000011.9:g.118964009_118964010del , CM000673.1:g.118964009_118964010del	GRCh37
NC_000011.8:g.118469219_118469220del	NCBI36
NG_008093.1:g.13423_13424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*16_*17del	ENSP00000509288.1:n.*16_*17del
ENST00000691144.1:n.3317_3318del
ENST00000691249.1:n.1926_1927del
ENST00000442944.7:c.*16_*17del	ENSP00000392041.3:n.*16_*17del
ENST00000640813.1:c.*339_*340del	ENSP00000491061.1:n.*339_*340del
ENST00000648026.1:c.996_997del	ENSP00000498044.1:n.996_997del
ENST00000648374.1:c.*16_*17del	ENSP00000497255.1:n.*16_*17del
ENST00000650101.1:c.*16_*17del	ENSP00000496970.1:n.*16_*17del
ENST00000650307.1:n.1928_1929del
ENST00000652429.1:c.*16_*17del MANE Select	ENSP00000498786.1:n.*16_*17del
ENST00000278715.7:c.*16_*17del	ENSP00000278715.3:n.*16_*17del
ENST00000392841.1:c.*16_*17del	ENSP00000376584.1:n.*16_*17del
ENST00000442944.6:c.*16_*17del	ENSP00000392041.2:n.*16_*17del
ENST00000537841.5:c.*16_*17del	ENSP00000444730.1:n.*16_*17del
ENST00000539045.1:n.601_602del
ENST00000542729.5:c.*16_*17del	ENSP00000443058.1:n.*16_*17del
ENST00000543090.5:c.*16_*17del	ENSP00000445429.1:n.*16_*17del
ENST00000543543.5:n.1577_1578del
ENST00000544387.5:c.*16_*17del	ENSP00000438424.1:n.*16_*17del
ENST00000546226.5:n.1864_1865del
NM_000190.3:c.*16_*17del	NP_000181.2:n.*16_*17del
NM_001024382.1:c.*16_*17del	NP_001019553.1:n.*16_*17del
NM_001258208.1:c.*16_*17del	NP_001245137.1:n.*16_*17del
NM_001258209.1:c.*16_*17del	NP_001245138.1:n.*16_*17del
XM_005271531.1:c.*16_*17del	XP_005271588.1:n.*16_*17del
XM_005271532.1:c.*16_*17del	XP_005271589.1:n.*16_*17del
XM_005271533.2:c.*16_*17del	XP_005271590.1:n.*16_*17del
XM_011542796.1:c.*16_*17del	XP_011541098.1:n.*16_*17del
NM_000190.4:c.*16_*17del MANE Select	NP_000181.2:n.*16_*17del
NM_001024382.2:c.*16_*17del	NP_001019553.1:n.*16_*17del
XM_005271533.3:c.*16_*17del	XP_005271590.1:n.*16_*17del
XM_017017629.1:c.*16_*17del	XP_016873118.1:n.*16_*17del
XM_024448460.1:c.*16_*17del	XP_024304228.1:n.*16_*17del
NM_001258208.2:c.*16_*17del	NP_001245137.1:n.*16_*17del
NM_001258209.2:c.*16_*17del	NP_001245138.1:n.*16_*17del