Canonical Allele Identifier: CA2003792540

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092875_119092894delinsTCCCAGGTTTCTAGGTAGTC , CM000673.2:g.119092875_119092894delinsTCCCAGGTTTCTAGGTAGTC	GRCh38
NC_000011.9:g.118963585_118963604delinsTCCCAGGTTTCTAGGTAGTC , CM000673.1:g.118963585_118963604delinsTCCCAGGTTTCTAGGTAGTC	GRCh37
NC_000011.8:g.118468795_118468814delinsTCCCAGGTTTCTAGGTAGTC	NCBI36
NG_008093.1:g.12999_13018delinsTCCCAGGTTTCTAGGTAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.661-60_661-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000509288.1:n.661-60_661-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000691144.1:n.3041-60_3041-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000691249.1:n.1650-60_1650-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000442944.7:c.808-60_808-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000392041.3:n.808-60_808-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000640813.1:c.*63-60_*63-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000491061.1:n.*63-60_*63-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000648026.1:c.720-60_720-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000498044.1:n.720-60_720-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000648374.1:c.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000497255.1:n.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000649823.1:n.1283-60_1283-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000650101.1:c.757-60_757-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000496970.1:n.757-60_757-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000650307.1:n.1652-60_1652-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000652429.1:c.826-60_826-41delinsTCCCAGGTTTCTAGGTAGTC MANE Select	ENSP00000498786.1:n.826-60_826-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000278715.7:c.826-60_826-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000278715.3:n.826-60_826-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000392841.1:c.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000376584.1:n.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000442944.6:c.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000392041.2:n.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000537841.5:c.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000444730.1:n.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000539045.1:n.265_284delinsTCCCAGGTTTCTAGGTAGTC
ENST00000542044.5:n.1271-60_1271-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000542729.5:c.655-60_655-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000443058.1:n.655-60_655-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000543090.5:c.733-60_733-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000445429.1:n.733-60_733-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000543543.5:n.1301-60_1301-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000544182.1:n.1275-60_1275-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000544387.5:c.706-60_706-41delinsTCCCAGGTTTCTAGGTAGTC	ENSP00000438424.1:n.706-60_706-41delinsTCCCAGGTTTCTAGGTAGTC
ENST00000546226.5:n.1588-60_1588-41delinsTCCCAGGTTTCTAGGTAGTC
NM_000190.3:c.826-60_826-41delinsTCCCAGGTTTCTAGGTAGTC	NP_000181.2:n.826-60_826-41delinsTCCCAGGTTTCTAGGTAGTC
NM_001024382.1:c.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC	NP_001019553.1:n.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC
NM_001258208.1:c.706-60_706-41delinsTCCCAGGTTTCTAGGTAGTC	NP_001245137.1:n.706-60_706-41delinsTCCCAGGTTTCTAGGTAGTC
NM_001258209.1:c.655-60_655-41delinsTCCCAGGTTTCTAGGTAGTC	NP_001245138.1:n.655-60_655-41delinsTCCCAGGTTTCTAGGTAGTC
XM_005271531.1:c.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC	XP_005271588.1:n.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC
XM_005271532.1:c.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC	XP_005271589.1:n.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC
XM_005271533.2:c.772-60_772-41delinsTCCCAGGTTTCTAGGTAGTC	XP_005271590.1:n.772-60_772-41delinsTCCCAGGTTTCTAGGTAGTC
XM_011542796.1:c.661-60_661-41delinsTCCCAGGTTTCTAGGTAGTC	XP_011541098.1:n.661-60_661-41delinsTCCCAGGTTTCTAGGTAGTC
NM_000190.4:c.826-60_826-41delinsTCCCAGGTTTCTAGGTAGTC MANE Select	NP_000181.2:n.826-60_826-41delinsTCCCAGGTTTCTAGGTAGTC
NM_001024382.2:c.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC	NP_001019553.1:n.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC
XM_005271533.3:c.772-60_772-41delinsTCCCAGGTTTCTAGGTAGTC	XP_005271590.1:n.772-60_772-41delinsTCCCAGGTTTCTAGGTAGTC
XM_017017629.1:c.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC	XP_016873118.1:n.775-60_775-41delinsTCCCAGGTTTCTAGGTAGTC
XM_024448460.1:c.652-60_652-41delinsTCCCAGGTTTCTAGGTAGTC	XP_024304228.1:n.652-60_652-41delinsTCCCAGGTTTCTAGGTAGTC
NM_001258208.2:c.706-60_706-41delinsTCCCAGGTTTCTAGGTAGTC	NP_001245137.1:n.706-60_706-41delinsTCCCAGGTTTCTAGGTAGTC
NM_001258209.2:c.655-60_655-41delinsTCCCAGGTTTCTAGGTAGTC	NP_001245138.1:n.655-60_655-41delinsTCCCAGGTTTCTAGGTAGTC