Canonical Allele Identifier: CA2565774437

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037918_104037919dup , CM000672.2:g.104037918_104037919dup	GRCh38
NC_000010.10:g.105797676_105797677dup , CM000672.1:g.105797676_105797677dup	GRCh37
NC_000010.9:g.105787666_105787667dup	NCBI36
NG_007069.1:g.52964_52965dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2936-144_2936-143dup	ENSP00000358748.3:n.2936-144_2936-143dup
ENST00000648076.2:c.3071-144_3071-143dup MANE Select	ENSP00000497653.1:n.3071-144_3071-143dup
ENST00000353479.9:c.3071-144_3071-143dup	ENSP00000340937.5:n.3071-144_3071-143dup
ENST00000369733.7:c.2936-144_2936-143dup	ENSP00000358748.3:n.2936-144_2936-143dup
NM_000494.3:c.3071-144_3071-143dup	NP_000485.3:n.3071-144_3071-143dup
NM_000494.4:c.3071-144_3071-143dup MANE Select	NP_000485.3:n.3071-144_3071-143dup