Canonical Allele Identifier: CA1315935873

Gene: HIBCH

Linked Data

• dbSNP Id: rs863225062
• gnomAD v4: 2-190205149-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205151_190205152del , CM000664.2:g.190205151_190205152del	GRCh38
NC_000002.11:g.191069877_191069878del , CM000664.1:g.191069877_191069878del	GRCh37
NC_000002.10:g.190778122_190778123del	NCBI36
NG_017062.1:g.119895_119896del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359678.10:c.1127_1128del MANE Select	ENSP00000352706.5:p.Phe376Ter
ENST00000359678.9:c.1127_1128del	ENSP00000352706.5:p.Phe376Ter
ENST00000392332.7:c.*76_*77del	ENSP00000376144.3:n.*76_*77del
ENST00000399855.2:c.82_83del
ENST00000410045.5:c.458_459del	ENSP00000386274.1:p.Phe153Ter
ENST00000486981.1:n.362_363del
ENST00000622246.4:c.1109_1110del	ENSP00000481055.1:p.Phe370Ter
NM_014362.3:c.1127_1128del	NP_055177.2:p.Phe376Ter
NM_198047.2:c.*76_*77del	NP_932164.1:n.*76_*77del
XM_011510953.1:c.1127_1128del	XP_011509255.1:p.Phe376Ter
XM_011510954.1:c.629_630del	XP_011509256.1:p.Phe210Ter
XR_922903.1:n.1337_1338del
XM_011510953.2:c.1127_1128del	XP_011509255.1:p.Phe376Ter
XR_922903.2:n.1156_1157del
NM_014362.4:c.1127_1128del MANE Select	NP_055177.2:p.Phe376Ter
NM_198047.3:c.*76_*77del	NP_932164.1:n.*76_*77del