Canonical Allele Identifier: CA2804916209
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80180046_80180047insCC , CM000677.2:g.80180046_80180047insCC GRCh38
NC_000015.9:g.80472388_80472389insCC , CM000677.1:g.80472388_80472389insCC GRCh37
NC_000015.8:g.78259443_78259444insCC NCBI36
NG_012833.1:g.32048_32049insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.1050-78_1050-77insCC
ENST00000561421.6:c.961-78_961-77insCC MANE Select ENSP00000453347.2:n.961-78_961-77insCC
ENST00000646551.1:n.2575-78_2575-77insCC
ENST00000261755.9:c.961-78_961-77insCC ENSP00000261755.5:n.961-78_961-77insCC
ENST00000407106.5:c.961-78_961-77insCC ENSP00000385080.1:n.961-78_961-77insCC
ENST00000539156.5:c.751-78_751-77insCC ENSP00000454271.1:n.751-78_751-77insCC
ENST00000559217.1:n.178-78_178-77insCC
ENST00000561353.2:c.59-78_59-77insCC
ENST00000561421.5:c.961-78_961-77insCC ENSP00000453347.1:n.961-78_961-77insCC
NM_000137.2:c.961-78_961-77insCC NP_000128.1:n.961-78_961-77insCC
XM_024449872.1:c.961-78_961-77insCC XP_024305640.1:n.961-78_961-77insCC
NM_000137.4:c.961-78_961-77insCC MANE Select NP_000128.1:n.961-78_961-77insCC
NM_001374377.1:c.961-78_961-77insCC NP_001361306.1:n.961-78_961-77insCC
NM_001374380.1:c.961-78_961-77insCC NP_001361309.1:n.961-78_961-77insCC