Canonical Allele Identifier: CA602577923

Gene: HMBS

Linked Data

• dbSNP Id: rs1565758899
• gnomAD v2: 11-118963760-TAAAC-T
• gnomAD v4: 11-119093050-TAAAC-T
• MyVariant Identifiers: chr11:g.118963761_118963764del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093053_119093056del , CM000673.2:g.119093053_119093056del	GRCh38
NC_000011.9:g.118963763_118963766del , CM000673.1:g.118963763_118963766del	GRCh37
NC_000011.8:g.118468973_118468976del	NCBI36
NG_008093.1:g.13177_13180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.747+32_747+35del	ENSP00000509288.1:n.747+32_747+35del
ENST00000691144.1:n.3127+32_3127+35del
ENST00000691249.1:n.1736+32_1736+35del
ENST00000442944.7:c.894+32_894+35del	ENSP00000392041.3:n.894+32_894+35del
ENST00000640813.1:c.*149+32_*149+35del	ENSP00000491061.1:n.*149+32_*149+35del
ENST00000648026.1:c.806+32_806+35del	ENSP00000498044.1:n.806+32_806+35del
ENST00000648374.1:c.861+32_861+35del	ENSP00000497255.1:n.861+32_861+35del
ENST00000650101.1:c.843+32_843+35del	ENSP00000496970.1:n.843+32_843+35del
ENST00000650307.1:n.1738+32_1738+35del
ENST00000652429.1:c.912+32_912+35del MANE Select	ENSP00000498786.1:n.912+32_912+35del
ENST00000278715.7:c.912+32_912+35del	ENSP00000278715.3:n.912+32_912+35del
ENST00000392841.1:c.861+32_861+35del	ENSP00000376584.1:n.861+32_861+35del
ENST00000442944.6:c.861+32_861+35del	ENSP00000392041.2:n.861+32_861+35del
ENST00000537841.5:c.861+32_861+35del	ENSP00000444730.1:n.861+32_861+35del
ENST00000539045.1:n.411+32_411+35del
ENST00000542044.5:n.1357+32_1357+35del
ENST00000542729.5:c.741+32_741+35del	ENSP00000443058.1:n.741+32_741+35del
ENST00000543090.5:c.819+32_819+35del	ENSP00000445429.1:n.819+32_819+35del
ENST00000543543.5:n.1387+32_1387+35del
ENST00000544182.1:n.1361+32_1361+35del
ENST00000544387.5:c.792+32_792+35del	ENSP00000438424.1:n.792+32_792+35del
ENST00000546226.5:n.1674+32_1674+35del
NM_000190.3:c.912+32_912+35del	NP_000181.2:n.912+32_912+35del
NM_001024382.1:c.861+32_861+35del	NP_001019553.1:n.861+32_861+35del
NM_001258208.1:c.792+32_792+35del	NP_001245137.1:n.792+32_792+35del
NM_001258209.1:c.741+32_741+35del	NP_001245138.1:n.741+32_741+35del
XM_005271531.1:c.861+32_861+35del	XP_005271588.1:n.861+32_861+35del
XM_005271532.1:c.861+32_861+35del	XP_005271589.1:n.861+32_861+35del
XM_005271533.2:c.858+32_858+35del	XP_005271590.1:n.858+32_858+35del
XM_011542796.1:c.747+32_747+35del	XP_011541098.1:n.747+32_747+35del
NM_000190.4:c.912+32_912+35del MANE Select	NP_000181.2:n.912+32_912+35del
NM_001024382.2:c.861+32_861+35del	NP_001019553.1:n.861+32_861+35del
XM_005271533.3:c.858+32_858+35del	XP_005271590.1:n.858+32_858+35del
XM_017017629.1:c.861+32_861+35del	XP_016873118.1:n.861+32_861+35del
XM_024448460.1:c.738+32_738+35del	XP_024304228.1:n.738+32_738+35del
NM_001258208.2:c.792+32_792+35del	NP_001245137.1:n.792+32_792+35del
NM_001258209.2:c.741+32_741+35del	NP_001245138.1:n.741+32_741+35del