Canonical Allele Identifier: CA2685364790

Gene: KEL

Linked Data

• gnomAD v4: 7-142958120-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958121_142958122del , CM000669.2:g.142958121_142958122del	GRCh38
NC_000007.13:g.142655208_142655209del , CM000669.1:g.142655208_142655209del	GRCh37
NC_000007.12:g.142365330_142365331del	NCBI36
NG_007492.1:g.9295_9296del
NG_007492.2:g.9295_9296del
NG_007492.3:g.9295_9296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-149_526-148del MANE Select	ENSP00000347409.2:n.526-149_526-148del
ENST00000467543.6:c.*378-149_*378-148del	ENSP00000420011.2:n.*378-149_*378-148del
ENST00000355265.6:c.526-149_526-148del	ENSP00000347409.2:n.526-149_526-148del
ENST00000467543.5:c.469-149_469-148del	ENSP00000420011.1:n.469-149_469-148del
ENST00000476829.5:c.525+182_525+183del	ENSP00000419889.1:n.525+182_525+183del
ENST00000479768.6:n.644-149_644-148del
ENST00000494148.1:n.125-149_125-148del
NM_000420.2:c.526-149_526-148del	NP_000411.1:n.526-149_526-148del
XM_005249993.2:c.562-149_562-148del	XP_005250050.1:n.562-149_562-148del
NM_000420.3:c.526-149_526-148del MANE Select	NP_000411.1:n.526-149_526-148del