Canonical Allele Identifier: CA2634286617

Gene: FA2H

Linked Data

• gnomAD v4: 16-74713539-G-GTCTCTTATACACCTCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74713539_74713540insTCTCTTATACACCTCTGA , CM000678.2:g.74713539_74713540insTCTCTTATACACCTCTGA	GRCh38
NC_000016.9:g.74747437_74747438insTCTCTTATACACCTCTGA , CM000678.1:g.74747437_74747438insTCTCTTATACACCTCTGA	GRCh37
NC_000016.8:g.73304938_73304939insTCTCTTATACACCTCTGA	NCBI36
NG_017070.1:g.66292_66293insTCAGAGGTGTATAAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.*650_*651insTCAGAGGTGTATAAGAGA MANE Select	ENSP00000219368.3:n.*650_*651insTCAGAGGTGTATAAGAGA
ENST00000219368.7:c.*650_*651insTCAGAGGTGTATAAGAGA	ENSP00000219368.3:n.*650_*651insTCAGAGGTGTATAAGAGA
ENST00000562145.1:n.1490_1491insTCAGAGGTGTATAAGAGA
NM_024306.4:c.*650_*651insTCAGAGGTGTATAAGAGA	NP_077282.3:n.*650_*651insTCAGAGGTGTATAAGAGA
XM_011523319.1:c.*650_*651insTCAGAGGTGTATAAGAGA	XP_011521621.1:n.*650_*651insTCAGAGGTGTATAAGAGA
XM_011523319.2:c.*650_*651insTCAGAGGTGTATAAGAGA	XP_011521621.1:n.*650_*651insTCAGAGGTGTATAAGAGA
NM_024306.5:c.*650_*651insTCAGAGGTGTATAAGAGA MANE Select	NP_077282.3:n.*650_*651insTCAGAGGTGTATAAGAGA