Canonical Allele Identifier: CA552533441

Gene:

Linked Data

• dbSNP Id: rs1553939485
• gnomAD v2: 4-75419820-T-TA
• gnomAD v3: 4-74554103-T-TA
• gnomAD v4: 4-74554103-T-TA
• MyVariant Identifiers: chr4:g.75419820_75419821insA (hg19) ; chr4:g.74554103_74554104insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554109dup , CM000666.2:g.74554109dup	GRCh38
NC_000004.11:g.75419826dup , CM000666.1:g.75419826dup	GRCh37
NC_000004.10:g.75638690dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1272dup