Canonical Allele Identifier: CA553749085

Gene:

Linked Data

• dbSNP Id: rs1156787707
• gnomAD v2: 4-103420856-C-CTCTCTCTT
• gnomAD v3: 4-102499699-C-CTCTCTCTT
• gnomAD v4: 4-102499699-C-CTCTCTCTT
• MyVariant Identifiers: chr4:g.103420860delinsCTCTTTCTT (hg19) ; chr4:g.103420856_103420857insTCTCTCTT (hg19) ; chr4:g.102499703delinsCTCTTTCTT (hg38) ; chr4:g.102499699_102499700insTCTCTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499702_102499703insCTCTTTCT , CM000666.2:g.102499702_102499703insCTCTTTCT	GRCh38
NC_000004.11:g.103420859_103420860insCTCTTTCT , CM000666.1:g.103420859_103420860insCTCTTTCT	GRCh37
NC_000004.10:g.103639891_103639892insCTCTTTCT	NCBI36
NG_050628.1:g.3374_3375insCTCTTTCT

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1549_643+1550insAAGAGAGA	XP_011530769.1:n.643+1549_643+1550insAAGAGAGA
NR_136202.1:n.48+2739_48+2740insAAGAGAGA