Canonical Allele Identifier: CA2644085270

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23865735-ATGTACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865741_23865746del , CM000663.2:g.23865741_23865746del	GRCh38
NC_000001.10:g.24192231_24192236del , CM000663.1:g.24192231_24192236del	GRCh37
NC_000001.9:g.24064818_24064823del	NCBI36
NG_013346.1:g.7629_7634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-116_390-111del MANE Select	ENSP00000363603.3:n.390-116_390-111del
ENST00000374479.3:c.390-116_390-111del	ENSP00000363603.3:n.390-116_390-111del
NM_000147.4:c.390-116_390-111del	NP_000138.2:n.390-116_390-111del
XM_005245821.1:c.15-116_15-111del	XP_005245878.1:n.15-116_15-111del
XM_011541167.1:c.-244-116_-244-111del	XP_011539469.1:n.-244-116_-244-111del
XM_005245821.3:c.15-116_15-111del	XP_005245878.1:n.15-116_15-111del
XM_011541167.3:c.-244-116_-244-111del	XP_011539469.1:n.-244-116_-244-111del
XM_017000905.2:c.87-116_87-111del	XP_016856394.1:n.87-116_87-111del
NM_000147.5:c.390-116_390-111del MANE Select	NP_000138.2:n.390-116_390-111del
NR_174379.1:n.568-116_568-111del
NR_174380.1:n.617-116_617-111del
NR_174381.1:n.456-116_456-111del
NR_174382.1:n.853-116_853-111del