Canonical Allele Identifier: CA1138670292

Gene:

Linked Data

• dbSNP Id: rs2051138965
• gnomAD v3: Y-2818562-TA-T
• gnomAD v4: Y-2818562-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2818578del , CM000686.2:g.2818578del	GRCh38
NC_000024.9:g.2686619del , CM000686.1:g.2686619del	GRCh37
NC_000024.8:g.2746619del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.107-22908del
ENST00000681787.1:n.107-22450del
ENST00000681940.1:n.107-27068del