Canonical Allele Identifier: CA2675856438

Gene: SPINK5

Linked Data

• gnomAD v4: 5-148107063-AGTGAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107064_148107069del , CM000667.2:g.148107064_148107069del	GRCh38
NC_000005.9:g.147486627_147486632del , CM000667.1:g.147486627_147486632del	GRCh37
NC_000005.8:g.147466820_147466825del	NCBI36
NG_009633.1:g.48093_48098del , LRG_110:g.48093_48098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1116_1121del
ENST00000256084.8:c.1507_1512del MANE Select	ENSP00000256084.7:p.Val503_Arg504del
ENST00000256084.7:c.1507_1512del	ENSP00000256084.7:p.Val503_Arg504del
ENST00000359874.7:c.1507_1512del	ENSP00000352936.3:p.Val503_Arg504del
ENST00000398454.5:c.1507_1512del	ENSP00000381472.1:p.Val503_Arg504del
ENST00000507988.5:n.1671_1676del
ENST00000508733.5:c.1450_1455del	ENSP00000421519.1:p.Val484_Arg485del
NM_001127698.1:c.1507_1512del	NP_001121170.1:p.Val503_Arg504del
NM_001127699.1:c.1507_1512del	NP_001121171.1:p.Val503_Arg504del
NM_006846.3:c.1507_1512del , LRG_110t1:c.1507_1512del	NP_006837.2:p.Val503_Arg504del
XM_011537550.1:c.1450_1455del	XP_011535852.1:p.Val484_Arg485del
XM_011537551.1:c.1423_1428del	XP_011535853.1:p.Val475_Arg476del
XM_011537551.2:c.1423_1428del	XP_011535853.1:p.Val475_Arg476del
NM_001127698.2:c.1507_1512del	NP_001121170.1:p.Val503_Arg504del
NM_001127699.2:c.1507_1512del	NP_001121171.1:p.Val503_Arg504del
NM_006846.4:c.1507_1512del MANE Select	NP_006837.2:p.Val503_Arg504del